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last update : 11-04-12016
Symbol HCMU
Location 1q21.3
Name hyalinosis cutis and mucosae of Urbach-Wiethe
Other name(s)
  • lipoproteinosis
  • Urbach-Wiethe disease
  • Corresponding gene ECM1
    Other symbol(s) LP, URBWD
    Main clinical features
  • association of early hoarseness with an unusual skin eruption
  • papular infiltration of the margin of the lids producing 'itchy eyes,' and infiltration in the tongue and its frenulum, in the larynx leading to hoarseness, and in the skin (elbows and axilla) are characteristic
  • moniliform blepharosis is also an ocular diagnostic feature (PMID: 24079542))
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene product
    Name extracellular matrix protein 1
    Gene mutationChromosome rearrangementEffectComments
    nonsense     C589T (Q197Ter) mutation in the exon 6, with a serious form
  • interaction between ECM1 and FBN1 may play a role in the pathogenesis of HCMU as well as in a number of processes involving the extracellular matrix of connective tissues
  • acitretin treatment may have efficacy for some of patients with lipoid proteinosis, with superior effect on laryngeal symptoms than skin lesions (PMID: 26778481))
  • Genotype/Phenotype correlations mutations in exon 7 have a slightly milder phenotype than those with exon 6 mutations